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Article

Correlation of DEFA1 gene copy number variation with intestinal involvement in Behcet's disease.

Journal of Korean medical science - 1 Jan 2012

Ahn Joong Kyong, Cha Hoon-Suk, Lee Jaejoon, Jeon Chan Hong, Koh Eun-Mi

Abstract excerpt

Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding α-defensin-1 in samples from Korean individuals with Behcet's disease (BD) compared to healthy controls (HC). We recruited 55 BD patients and 35 HC. A duplex Taqman® real-time PCR assay was used to assess CN. Most samples (31.1%) had a CN of 5 with a mean CN of 5.4 ± 0.2....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22219625
DOI: 10.3346/jkms.2012.27.1.107
PMCID: PMC3247767

Genes

DEFA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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